{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Small AM"],"funding":["NHLBI NIH HHS"],"pagination":["57-66"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12807872"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["58(1)"],"pubmed_abstract":["Aortic stenosis (AS) is a common valvular heart disease and has no pharmacological therapies. We performed a multi-ancestry genome-wide association meta-analysis of 86,864 AS cases among 2,853,408 individuals, discovering 241 autosomal independent risk loci and 3 X chromosome risk loci. We additionally performed sex-stratified and ancestry-stratified genome-wide association studies (GWASs), identifying an additional 5 sex-specific risk loci, 11 risk loci in European ancestry individuals and 1 risk locus in African ancestry individuals. We also performed a transcriptome-wide association study using expression quantitative trait loci from human aortic valves, discovering 54 new genes for which genetically predicted expression influences the risk of AS. We then generated a new polygenic risk "],"journal":["Nature genetics"],"pubmed_title":["Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction."],"pmcid":["PMC12807872"],"funding_grant_id":["R01 HL127564"],"pubmed_authors":["Bundgaard H","Schott JJ","Melander O","Mathieu P","Wells QS","Genes & Health Research Team","Damrauer SM","Moksnes MR","Thanassoulis G","Matsuda K","Komuro I","Esko T","Boulier KM","Ghouse J","Gignoux C","Nelson CP","Marston NA","Al-Kassou B","Debiec R","Ullum H","Singh SA","Berger K","Shah SH","van Heel DA","Holm H","Do R","Melloni GEM","Erikstrup C","Lee J","Michaelsson K","Franke A","Vy HMT","Nadauld L","Knight S","Loos RJF","Larsson SC","Farber-Eger EH","Smith JG","Finer S","Soderberg S","Krane M","Sveinbjornsson G","Kamanu FK","Kurosawa R","Selvaraj MS","Nickenig G","DBDS Genomic Consortium","Ganna A","Brumpton BM","Wilson PWF","Messika-Zeitoun D","Ostrowski SR","Pedersen OB","Engert JC","Shaffer LL","Ruff CT","Czuba T","Ruan Y","Braund PS","Koyama S","Ljungberg J","Stefansson K","Trenkwalder T","Theriault S","Nothen MM","Nowak-Gottl U","Rafaels N","Sorensen E","Colorado Center for Personalized Medicine","Ito K","Schumacher J","Schunkert H","Peloso GM","Levin MG","Smith HA","Dufresne L","Ramaker ME","Abner E","Samani NJ","Pasaniuc B","Aikawa E","Maj C","Laporte F","Small AM","Sabatine MS","Corey KM","Itoh S","Rader DJ","Dreβen M","Le Tourneau T","Bhukar R","Cho K","Estonian Biobank Research Team","Mikkelsen C","Sonawane AR","Natarajan P","O'Donnell CJ","Yang TY","Helgadottir A","Knowlton KU","Le Scouarnec S","Gudbjartsson DF","Raja AA","Musameh MD","Bosse Y"],"additional_accession":[]},"is_claimable":false,"name":"Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.","description":"Aortic stenosis (AS) is a common valvular heart disease and has no pharmacological therapies. We performed a multi-ancestry genome-wide association meta-analysis of 86,864 AS cases among 2,853,408 individuals, discovering 241 autosomal independent risk loci and 3 X chromosome risk loci. We additionally performed sex-stratified and ancestry-stratified genome-wide association studies (GWASs), identifying an additional 5 sex-specific risk loci, 11 risk loci in European ancestry individuals and 1 risk locus in African ancestry individuals. We also performed a transcriptome-wide association study using expression quantitative trait loci from human aortic valves, discovering 54 new genes for which genetically predicted expression influences the risk of AS. We then generated a new polygenic risk ","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-07-15T14:36:13.063Z","creation":"2026-07-06T03:08:30.35Z"},"accession":"S-EPMC12807872","cross_references":{"pubmed":["41419686"],"doi":["10.1038/s41588-025-02417-6"]}}